A curated catalogue of human genomic structural variation




Variant Details

Variant: esv23869



Internal ID4354770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:113320330..114358495hg38UCSC Ensembl
Innerchr1:113862952..114901117hg19UCSC Ensembl
Innerchr1:113664475..114702640hg18UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg381038166
hg191038166
hg181038166
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv21206, esv11517
SamplesNA18523, NA12414
Known GenesAP4B1, AP4B1-AS1, BCL2L15, DCLRE1B, HIPK1, MAGI3, OLFML3, PHTF1, PTPN22, RSBN1, SYT6
MethodOligo aCGH
AnalysisSegment log2 ratios from each sample. This was done running the GADA algorithm (Pique-Regi et al., 2008) using the options "-M 10 -T 10 -a 2.5". Filter non-CNV segments using intensity thresholds. Merge remaining CNV "calls" within each sample. Adjacent calls of the same direction (gain or loss) are merged if both: the distance between calls is less than 10kb, and the distance between calls is less than 10% of the size of the largest of the two calls.
PlatformSanger H. Sapiens 42mCGH Array 5781_53 726K v1
Comments
ReferenceConrad_et_al_2009
Pubmed ID19812545
Accession Number(s)esv23869
Frequency
Sample Size40
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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